Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MCM10	55388	broad.mit.edu	37	10	13222503	13222503	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr10:13222503C>G	ENST00000378694.1	+	6	901	c.826C>G	c.(826-828)Ctg>Gtg	p.L276V	MCM10_ENST00000484800.2_Missense_Mutation_p.L277V|MCM10_ENST00000378714.3_Missense_Mutation_p.L276V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	277					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACTGATCAGACTGTCTCAGAT	0.433000													30	105					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10681658	10681658	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr18:10681658G>A	ENST00000302079.6	-	46	7250	c.7251C>T	c.(7249-7251)acC>acT	p.T2417T	PIEZO2_ENST00000580640.1_Splice_Site_p.T2505T|PIEZO2_ENST00000538948.1_Splice_Site_p.T437T|PIEZO2_ENST00000503781.3_Splice_Site_p.T2480T|PIEZO2_ENST00000285141.4_Splice_Site_p.T272T			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2480						integral to membrane	ion channel activity	p.T2480T(1)|p.T272T(1)									ATTTACTTACGGTGTCCCTAG	0.413000													9	118					0	0	1	0	0
IGHV7-81	28378	broad.mit.edu	37	14	107283098	107283098	+	RNA	SNP	T	T	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr14:107283098T>A	ENST00000390639.2	-	0	100																											AGTAGGTACCTGTGGAGAGGA	0.592000													25	94					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51462421	51462421	+	Nonstop_Mutation	SNP	C	C	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:51462421C>A	ENST00000376851.3	-	6	1173	c.734G>T	c.(733-735)tGa>tTa	p.*245L	KLK6_ENST00000310157.2_Nonstop_Mutation_p.*245L|KLK6_ENST00000376853.4_Missense_Mutation_p.D117Y|KLK6_ENST00000456750.2_Nonstop_Mutation_p.*138L|KLK6_ENST00000391808.1_Nonstop_Mutation_p.*138L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Nonstop_Mutation_p.*245L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	0					amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ATGTCAGGGTCACTTGGCCTG	0.547000													5	160					5.9392e-07	6.36343e-07	1	1	0
SULT1A1	6817	broad.mit.edu	37	16	28617448	28617448	+	Missense_Mutation	SNP	T	T	G	rs35728980		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:28617448T>G	ENST00000395609.1	-	9	1462	c.704A>C	c.(703-705)aAc>aCc	p.N235T	SULT1A1_ENST00000569554.1_Missense_Mutation_p.N235T|SULT1A1_ENST00000395607.1_Missense_Mutation_p.N235T|SULT1A1_ENST00000350842.4_Missense_Mutation_p.N157T|SULT1A1_ENST00000314752.7_Missense_Mutation_p.N235T			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	235			N -> T (in dbSNP:rs35728980).		3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGTCATAGGGTTCTTCTTCAT	0.572000													6	285					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81142879	81142879	+	RNA	SNP	T	T	C			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:81142879T>C	ENST00000534142.1	-	0	1393				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAACGGAGTTTCCAACCAAAT	0.522000													6	20					0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86509292	86509292	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:86509292C>T	ENST00000165698.5	-	2	249		c.e2+1		REEP1_ENST00000540790.1_Splice_Site|REEP1_ENST00000535845.1_Intron|REEP1_ENST00000541910.1_Splice_Site|REEP1_ENST00000473407.1_Splice_Site|REEP1_ENST00000538924.1_Splice_Site	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1						cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GTGCTACTTACATATTCCTTA	0.463000													86	169					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42612159	42612159	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:42612159G>A	ENST00000276410.2	-	4	641	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Missense_Mutation_p.R81C	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	96						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGATCCCAGCGCAATTTATAA	0.403000													5	85					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	76					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308830	140308830	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:140308830A>T	ENST00000253807.2	+	1	2353	c.2353A>T	c.(2353-2355)Act>Tct	p.T785S	PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.T785S|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATCTTGCCACTGGGGTAGG	0.453000													7	141					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821946	206821946	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:206821946G>A	ENST00000367106.1	+	4	1816	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	DYRK3_ENST00000367108.3_Missense_Mutation_p.R448H|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.R468H			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	468	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTGGGGGGTCGCTCACGTAGG	0.522000													6	243					0	0	1	0	0
ABHD4	63874	broad.mit.edu	37	14	23072942	23072942	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr14:23072942C>T	ENST00000428304.2	+	4	668	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	200					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TGTCCTAGGACGTTCCAATCC	0.567000													8	104					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12969474	12969474	+	Silent	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:12969474C>T	ENST00000251472.4	+	12	1326	c.1287C>T	c.(1285-1287)gcC>gcT	p.A429A	MAST1_ENST00000591495.1_Silent_p.A425A	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	429	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACCTTCGCCGAGAACCCGT	0.572000													16	37					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4944525	4944525	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:4944525G>A	ENST00000345988.2	-	12	1426	c.1337C>T	c.(1336-1338)cCg>cTg	p.P446L	PPL_ENST00000590782.2_Missense_Mutation_p.P444L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	446					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACACACGGCCGGAGCAATCAG	0.632000													4	73					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810561	140810561	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:140810561C>T	ENST00000252085.3	+	1	377	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGAATCCGCGCAGCGG	0.627000													16	157					0	0	1	0	0
LOC101927755	101927755	broad.mit.edu	37	17	58066651	58066651	+	RNA	SNP	C	C	T	rs144367363	by1000genomes	TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333000													3	22					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			40	34					0	0	1	0	0
FAM114A1	92689	broad.mit.edu	37	4	38907402	38907402	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr4:38907402C>T	ENST00000358869.2	+	6	753	c.577C>T	c.(577-579)Cct>Tct	p.P193S	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	193						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGATCAGGGCCCTGCAGAAAG	0.488000													6	95					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37229591	37229591	+	Silent	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:37229591C>T	ENST00000233099.5	-	32	5270	c.5175G>A	c.(5173-5175)cgG>cgA	p.R1725R	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1725							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTGGCATATGCCGTACTAAAA	0.478000													4	112					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144895057	144895057	+	Silent	SNP	G	G	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:144895057G>T	ENST00000356994.2	-	8	723	c.717C>A	c.(715-717)ctC>ctA	p.L239L	SCRIB_ENST00000377533.3_Silent_p.L158L|SCRIB_ENST00000320476.3_Silent_p.L239L	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	239	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCAGCCCGCCGAGCTCAGCAG	0.687000													5	46					1.23904e-05	1.29667e-05	1	1	0
EFEMP1	2202	broad.mit.edu	37	2	56103869	56103869	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:56103869C>T	ENST00000394555.2	-	7	1204	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Missense_Mutation_p.E257K|EFEMP1_ENST00000394554.1_Missense_Mutation_p.E257K	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	257	EGF-like 4; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCATCACATTCATTTATATCT	0.308000													33	53					0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20940378	20940378	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:20940378C>A	ENST00000375071.3	+	3	492	c.310C>A	c.(310-312)Caa>Aaa	p.Q104K	CDA_ENST00000461985.1_Intron	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	104					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GGCCTGCAGGCAAGTCATGAG	0.498000													4	94					1	1	1	1	0
ZNF276	92822	broad.mit.edu	37	16	89799951	89799951	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:89799951G>A	ENST00000289816.5	+	8	1429	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	ZNF276_ENST00000446326.2_Missense_Mutation_p.A234T|ZNF276_ENST00000443381.2_Missense_Mutation_p.A448T|ZNF276_ENST00000568064.1_Missense_Mutation_p.A356T	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GTACCGAGGCGCTGACGGCAT	0.622000													24	52					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701411	30701411	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:30701411C>T	ENST00000256246.2	-	1	5197	c.5123G>A	c.(5122-5124)aGg>aAg	p.R1708K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1708										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCTAAGTGCCTTTTTTTGTT	0.373000													8	117					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32697529	32697529	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr11:32697529G>T	ENST00000335185.5	-	8	511	c.468C>A	c.(466-468)gaC>gaA	p.D156E	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	156										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GCTTATGATAGTCTTCTTTAG	0.323000													5	194					0.00116845	0.001195	1	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													3	32					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11141499	11141499	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:11141499G>A	ENST00000358026.2	+	25	3760	c.3476G>A	c.(3475-3477)gGg>gAg	p.G1159E	SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1159E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1159E|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1159E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1159E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1159E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1159	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.L1161fs*3(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACCCGGGCTGGGGGGCTCGGC	0.617000			"""F, N, Mis"""		NSCLC								3	15					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3424149	3424149	+	RNA	SNP	C	C	T	rs112841660		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr11:3424149C>T	ENST00000529482.1	+	0	808																											TCATAGAGGACGAAGACTTCT	0.562000													3	18					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871049	170871049	+	Silent	SNP	G	G	A	rs10592951		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr6:170871049G>A	ENST00000392092.2	+	3	504	c.225G>A	c.(223-225)caG>caA	p.Q75Q	TBP_ENST00000230354.6_Silent_p.Q75Q|TBP_ENST00000540980.1_Silent_p.Q55Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	75	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcaacagcagcagcagc	0.567000													5	49					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36141229	36141229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:36141229C>T	ENST00000296603.4	-	4	810	c.348G>A	c.(346-348)tgG>tgA	p.W116*		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	116						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGTGACGTCCAATACACTA	0.313000													6	103					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32740031	32740031	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:32740031G>A	ENST00000333070.4	+	2	201	c.101G>A	c.(100-102)gGc>gAc	p.G34D	LCK_ENST00000336890.5_Missense_Mutation_p.G34D|LCK_ENST00000373564.3_Missense_Mutation_p.G34D	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	34	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GATGGCAAGGGCACGGTAAGA	0.532000			T	TRB@	T-ALL								20	45					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924248	105924248	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:105924248G>C	ENST00000393359.2	-	2	937	c.511C>G	c.(511-513)Ctc>Gtc	p.L171V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.L171V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	171	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCCACAGCGAGGGGCTGCTCG	0.557000													45	100					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr10:126682516G>A	ENST00000309035.6	-	6	2569	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582000													4	172					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								36	52					0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65245298	65245298	+	Silent	SNP	C	C	T			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:65245298C>T	ENST00000234256.3	+	6	1371	c.1128C>T	c.(1126-1128)acC>acT	p.T376T	SLC1A4_ENST00000531327.1_Silent_p.T78T	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	376					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TCGGGGCCACCGTGAACATGG	0.517000													39	42					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	25					0	0	1	0	0
SLC35F5	80255	broad.mit.edu	37	2	114513952	114513953	+	Translation_Start_Site	INS	-	-	A			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:114513952_114513953insA	ENST00000409342.1	-	0	244_245				SLC35F5_ENST00000245680.2_Frame_Shift_Ins_p.R12fs			Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5						transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CCTACCTGGCCTTCCTGCCCCG	0.733													2	4	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226516154	226516157	+	Frame_Shift_Del	DEL	AAGT	AAGT	-	rs151101366	by1000genomes	TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:226516154_226516157delAAGT	ENST00000272907.6	+	6	2248_2251	c.1835_1838delAAGT	c.(1834-1839)aaagtafs	p.KV612fs		NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	612																	CCAGAGCCTAAAGTAAGCTGCAAA	0.475													9	191	---	---	---	---					
ZBTB20	26137	broad.mit.edu	37	3	114070470	114070478	+	In_Frame_Del	DEL	TGCACTGAC	TGCACTGAC	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr3:114070470_114070478delTGCACTGAC	ENST00000462705.1	-	11	1049_1057	c.228_236delGTCAGTGCA	c.(226-237)cagtcagtgcaa>caa	p.76_79QSVQ>Q	ZBTB20_ENST00000474710.1_In_Frame_Del_p.149_152QSVQ>Q|ZBTB20_ENST00000464560.1_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000393785.2_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000357258.3_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000481632.1_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000471418.1_In_Frame_Del_p.76_79QSVQ>Q	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V78G(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AATGAGCTTTTGCACTGACTGCACTGACA	0.598													9	55	---	---	---	---					
FLJ33360	401172	broad.mit.edu	37	5	6337066	6337067	+	RNA	DEL	AC	AC	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:6337066_6337067delAC	ENST00000507444.1	-	0	143					NR_028351.1																						acacatacatacacacacacac	0.475													2	4	---	---	---	---					
RP11-3P22.2	0	broad.mit.edu	37	7	68876843	68876843	+	RNA	DEL	A	A	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr7:68876843delA	ENST00000435148.1	-	0	156																											CGCTCAGTTTATGCAGCAGCC	0.498													2	4	---	---	---	---					
TNPO3	23534	broad.mit.edu	37	7	128655167	128655169	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr7:128655167_128655169delAAG	ENST00000393245.1	-	4	789_791	c.416_418delCTT	c.(415-420)tctttg>ttg	p.S139del	TNPO3_ENST00000482320.1_In_Frame_Del_p.S73del|TNPO3_ENST00000471234.1_In_Frame_Del_p.S139del|TNPO3_ENST00000265388.5_In_Frame_Del_p.S139del|TNPO3_ENST00000471166.1_In_Frame_Del_p.S139del	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	139					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AAAAAAGGCAAAGAAGTCACATC	0.365													8	71	---	---	---	---					
FAM66D	100132923	broad.mit.edu	37	8	11994626	11994627	+	RNA	DEL	GT	GT	-	rs138516564	by1000genomes	TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:11994626_11994627delGT	ENST00000434078.2	+	0	608					NR_027425.1																						gtatttgtgcgtgtgtgtgtgt	0.510													8	121	---	---	---	---					
ADAM28	10863	broad.mit.edu	37	8	24167482	24167485	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:24167482_24167485delAAGT	ENST00000265769.4	+	3	336_337	c.226_227delAAGT	c.(226-228)aag>g	p.K76fs	ADAM28_ENST00000437154.2_Splice_Site_p.K76fs|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	76					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAAAAAAAACAAGTAAGTATCTTT	0.348													8	146	---	---	---	---					
MEG3	55384	broad.mit.edu	37	14	101311732	101311734	+	RNA	DEL	CCT	CCT	-	rs61149909		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr14:101311732_101311734delCCT	ENST00000554041.1	-	0	143																											CCTCATCCGCCCTCCTCCTCCTC	0.606													3	3	---	---	---	---					
PPM1E	22843	broad.mit.edu	37	17	56833644	56833646	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:56833644_56833646delGAG	ENST00000308249.2	+	1	415_417	c.286_288delGAG	c.(286-288)gagdel	p.E100del		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	100	Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ggttgagggtgaggaggaggagg	0.783													2	4	---	---	---	---					
SMC1B	27127	broad.mit.edu	37	22	45804658	45804660	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr22:45804658_45804660delAGA	ENST00000357450.4	-	2	228_230	c.229_231delTCT	c.(229-231)tctdel	p.S77del	SMC1B_ENST00000404354.3_In_Frame_Del_p.S77del	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	77					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTACACTTGCAGAAGAAGAAATA	0.291													7	110	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938182	76938183	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chrX:76938182_76938183delTG	ENST00000373344.5	-	9	2779_2780	c.2565_2566delCA	c.(2563-2568)cacagcfs	p.HS855fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.HS817fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	855					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTTTTTTGCTGTGTTTCTCAT	0.356			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						48	56	---	---	---	---					
ZNF711	7552	broad.mit.edu	37	X	84526116	84526117	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chrX:84526116_84526117delAT	ENST00000360700.4	+	10	2592_2593	c.1706_1707delAT	c.(1705-1707)catfs	p.H569fs	ZNF711_ENST00000542798.1_Frame_Shift_Del_p.H365fs|ZNF711_ENST00000395402.1_Frame_Shift_Del_p.H531fs|ZNF711_ENST00000373165.3_Frame_Shift_Del_p.H523fs|ZNF711_ENST00000276123.3_Frame_Shift_Del_p.H523fs			Q9Y462	ZN711_HUMAN	zinc finger protein 711	523					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CTCAAGAAACATATGAGAACCC	0.396													7	36	---	---	---	---					
